Canonical Allele Identifier: CA370813721

Gene: CHRNA2

Linked Data

• dbSNP Id: rs2472553
• gnomAD v2: 8-27328511-G-T
• gnomAD v3: 8-27470994-G-T
• gnomAD v4: 8-27470994-G-T
• MyVariant Identifiers: chr8:g.27328511G>T (hg19) ; chr8:g.27470994G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27470994G>T , CM000670.2:g.27470994G>T	GRCh38
NC_000008.10:g.27328511G>T , CM000670.1:g.27328511G>T	GRCh37
NC_000008.9:g.27384428G>T	NCBI36
NG_015827.1:g.13303C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407991.3:c.65C>A MANE Select	ENSP00000385026.1:p.Thr22Asn
ENST00000637241.1:c.65C>A	ENSP00000490690.1:p.Thr22Asn
ENST00000240132.7:c.65C>A	ENSP00000240132.2:p.Thr22Asn
ENST00000407991.2:c.65C>A	ENSP00000385026.1:p.Thr22Asn
ENST00000518712.5:c.65C>A	ENSP00000430856.1:p.Thr22Asn
ENST00000520933.7:c.-52C>A	ENSP00000429616.2:n.-52C>A
ENST00000521921.5:c.65C>A	ENSP00000429953.1:p.Thr22Asn
ENST00000523695.5:c.65C>A	ENSP00000430612.1:p.Thr22Asn
ENST00000524096.5:c.65C>A	ENSP00000430422.1:p.Thr22Asn
NM_000742.3:c.65C>A	NP_000733.2:p.Thr22Asn
NM_001282455.1:c.65C>A	NP_001269384.1:p.Thr22Asn
XM_006716282.1:c.65C>A	XP_006716345.1:p.Thr22Asn
XM_011544388.1:c.65C>A	XP_011542690.1:p.Thr22Asn
XM_011544389.1:c.-394C>A	XP_011542691.1:n.-394C>A
NM_001347705.1:c.-363C>A	NP_001334634.1:n.-363C>A
NM_001347706.1:c.-408C>A	NP_001334635.1:n.-408C>A
NM_001347707.1:c.-349C>A	NP_001334636.1:n.-349C>A
NM_001347708.1:c.-397C>A	NP_001334637.1:n.-397C>A
XM_011544389.2:c.-394C>A	XP_011542691.1:n.-394C>A
NM_000742.4:c.65C>A MANE Select	NP_000733.2:p.Thr22Asn
NM_001282455.2:c.65C>A	NP_001269384.1:p.Thr22Asn
NM_001347705.2:c.-363C>A	NP_001334634.1:n.-363C>A
NM_001347706.2:c.-408C>A	NP_001334635.1:n.-408C>A
NM_001347707.2:c.-349C>A	NP_001334636.1:n.-349C>A
NM_001347708.2:c.-397C>A	NP_001334637.1:n.-397C>A